Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000503:physiopathology; D002352:Carrier Proteins; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D020125:Mutation, Missense; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000503:physiopathology; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D014792:Visual Acuity; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D002352:Carrier Proteins; D018389:Codon, Nonsense; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase